Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_assertion> ?p ?o ?g. }
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- NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_assertion type Assertion NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_head.
- NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_assertion description "[The authors' objective is to report two heterozygous missense mutations in the NDUFAF1 gene as a cause of fatal infantile HCM in a patient with isolated complex I deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_provenance.
- NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_assertion evidence source_evidence_literature NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_provenance.
- NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_assertion SIO_000772 21931170 NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_provenance.
- NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_assertion wasDerivedFrom befree-2016 NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_provenance.
- NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_assertion wasGeneratedBy ECO_0000203 NP924869.RAUiUwpfEfXo3A4lrDULHzymB0gf2qXmPXZmi_EIeUS5g130_provenance.